Limb-girdle muscular dystrophies in India: A review
Limb-girdle muscular dystrophies (LGMDs) are common in India. Information on LGMDs has been gradually evolving in the recent years. This information is scattered in case series and case studies. The aim of this study is to collate available Indian information on LGMDs and put it in perspective. PubM...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2017-01-01
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| Series: | Annals of Indian Academy of Neurology |
| Subjects: | |
| Online Access: | http://www.annalsofian.org/article.asp?issn=0972-2327;year=2017;volume=20;issue=2;spage=87;epage=95;aulast=Khadilkar |
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| author | Satish V Khadilkar Hinaben Dayalal Faldu Sarika Bapuso Patil Rakesh Singh |
| author_facet | Satish V Khadilkar Hinaben Dayalal Faldu Sarika Bapuso Patil Rakesh Singh |
| author_sort | Satish V Khadilkar |
| collection | DOAJ |
| description | Limb-girdle muscular dystrophies (LGMDs) are common in India. Information on LGMDs has been gradually evolving in the recent years. This information is scattered in case series and case studies. The aim of this study is to collate available Indian information on LGMDs and put it in perspective. PubMed search using keywords such as limb-girdle muscular dystrophies in India, sarcoglycanopathies, dysferlinopathy, calpainopathy, and GNE myopathy was carried out. The published information on LGMDs in Indian context suggests that dysferlinopathy, calpainopathy, sarcoglycanopathies, and other myopathies such as GNE myopathy are frequently seen in India. Besides these, anecdotal reports of many other forms are available, some with genetic support and others showing immunocytochemical defects. The genotypic information on LGMDs is gradually evolving and founder mutations have been detected in selected populations. Further multicenter studies are necessary to document the incidence and prevalence of these common conditions in India. |
| first_indexed | 2024-12-23T19:50:01Z |
| format | Article |
| id | doaj.art-117dbb720f3742b88e28af2cd7361fb0 |
| institution | Directory Open Access Journal |
| issn | 0972-2327 1998-3549 |
| language | English |
| last_indexed | 2024-12-23T19:50:01Z |
| publishDate | 2017-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Annals of Indian Academy of Neurology |
| spelling | doaj.art-117dbb720f3742b88e28af2cd7361fb02022-12-21T17:33:25ZengWolters Kluwer Medknow PublicationsAnnals of Indian Academy of Neurology0972-23271998-35492017-01-01202879510.4103/aian.AIAN_81_17Limb-girdle muscular dystrophies in India: A reviewSatish V KhadilkarHinaben Dayalal FalduSarika Bapuso PatilRakesh SinghLimb-girdle muscular dystrophies (LGMDs) are common in India. Information on LGMDs has been gradually evolving in the recent years. This information is scattered in case series and case studies. The aim of this study is to collate available Indian information on LGMDs and put it in perspective. PubMed search using keywords such as limb-girdle muscular dystrophies in India, sarcoglycanopathies, dysferlinopathy, calpainopathy, and GNE myopathy was carried out. The published information on LGMDs in Indian context suggests that dysferlinopathy, calpainopathy, sarcoglycanopathies, and other myopathies such as GNE myopathy are frequently seen in India. Besides these, anecdotal reports of many other forms are available, some with genetic support and others showing immunocytochemical defects. The genotypic information on LGMDs is gradually evolving and founder mutations have been detected in selected populations. Further multicenter studies are necessary to document the incidence and prevalence of these common conditions in India.http://www.annalsofian.org/article.asp?issn=0972-2327;year=2017;volume=20;issue=2;spage=87;epage=95;aulast=KhadilkarCalpainopathyDysferlinopathyGNE myopathyIndiaLimb-girdle muscular dystrophySarcoglycanopathies |
| spellingShingle | Satish V Khadilkar Hinaben Dayalal Faldu Sarika Bapuso Patil Rakesh Singh Limb-girdle muscular dystrophies in India: A review Annals of Indian Academy of Neurology Calpainopathy Dysferlinopathy GNE myopathy India Limb-girdle muscular dystrophy Sarcoglycanopathies |
| title | Limb-girdle muscular dystrophies in India: A review |
| title_full | Limb-girdle muscular dystrophies in India: A review |
| title_fullStr | Limb-girdle muscular dystrophies in India: A review |
| title_full_unstemmed | Limb-girdle muscular dystrophies in India: A review |
| title_short | Limb-girdle muscular dystrophies in India: A review |
| title_sort | limb girdle muscular dystrophies in india a review |
| topic | Calpainopathy Dysferlinopathy GNE myopathy India Limb-girdle muscular dystrophy Sarcoglycanopathies |
| url | http://www.annalsofian.org/article.asp?issn=0972-2327;year=2017;volume=20;issue=2;spage=87;epage=95;aulast=Khadilkar |
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